Is it Pompe disease? Introduction to Pompe disease (Part 1)

Pompe disease is a rare neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join co-authors of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, Associate Professor Robert Henderson (Neurologist, Royal Brisbane and Women’s Hospital, Brisbane) and Associate Professor Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital, Melbourne) as they review the early signs and symptoms of Pompe disease and how they can be investigated.

References:

1. Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscul Disord 2020; 30: 389–99.

2. Kishnani PS et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148(5): 671–6.

3. Hirschhorn R and Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001; 3389–420.

4. Gutierrez-Rivas E et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 2015; 25 (7): 548–5.

The views and opinions expressed in the presentation are solely those of Associate Professor Kornberg and Associate Professor Henderson and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Associate Professor Kornberg and Associate Professor Henderson received honoraria from Sanofi.

Sanofi-aventis australia pty ltd trading as Sanofi ABN 31 008 558 807. Talavera Corporate Centre, Building D, 12–24 Talavera Road, Macquarie Park, NSW 2113. MAT-AU-2200562. Date of Preparation March 2022. POM2200299